| Identification of a novel haplotype of the human catechol-O-methyltransferase gene. | |
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MedLine Citation:
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PMID: 19077667 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Human catechol-O-methyltransferase (COMT; EC 2.1.1.6) catalyzes the transfer of the methyl group to a variety of endogenous and exogenous catechol substrates using S-adenosyl-L-methionine as the methyl donor. This enzymatic O-methylation plays an important role in the inactivation of biologically active and toxic catechols. A number of studies in recent years have sought to characterize the polymorphism of human COMTs and also to determine the catalytic activity of polymorphic enzymes. We report here the identification of a new haplotype of the human COMT gene with triplet point mutations, which encodes the D51G/S60F/K162R mutant of the soluble COMT and the D101G/S110F/K212R mutant of the membrane-bound COMT. Kinetic analysis showed that these new COMT variants had essentially the same kinetic characteristics and catalytic activity as the wild-type COMTs for the O-methylation of 2-hydroxyestradiol and 4-hydroxyestradiol in vitro, but they have a significantly reduced thermostability at 37 degrees C. |
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Authors:
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Hyoung-Woo Bai; Bao Ting Zhu |
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Publication Detail:
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Type: In Vitro; Journal Article; Research Support, N.I.H., Extramural |
Journal Detail:
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Title: Pharmacogenetics and genomics Volume: 19 ISSN: 1744-6872 ISO Abbreviation: Pharmacogenet. Genomics Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2008-12-16 Completed Date: 2009-03-03 Revised Date: 2013-04-22 |
Medline Journal Info:
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Nlm Unique ID: 101231005 Medline TA: Pharmacogenet Genomics Country: United States |
Other Details:
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Languages: eng Pagination: 87-9 Citation Subset: IM |
Affiliation:
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Department of Pharmacology, Toxicology and Therapeutics, School of Medicine, University of Kansas Medical Center, KS 66160, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Base Sequence Catechol O-Methyltransferase / genetics*, metabolism Cloning, Molecular DNA Primers / genetics Enzyme Stability Haplotypes Humans Kinetics Pharmacogenetics Point Mutation Recombinant Proteins / genetics, metabolism |
| Grant Support | |
ID/Acronym/Agency:
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CA 97109/CA/NCI NIH HHS; ES 15242/ES/NIEHS NIH HHS; R01 CA097109/CA/NCI NIH HHS; R01 ES015242/ES/NIEHS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; 0/Recombinant Proteins; EC 2.1.1.6/Catechol O-Methyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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